Results 211 to 220 of about 104,900 (265)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Stage-specific regulation of soybean stem growth by exogenous gibberellin (GA₃). [PDF]

BMC Plant Biol
Shan F, Wang C, Lyu X, Ma C, Gong Z.
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Transcriptome Analysis Reveals Intensity-Dependent Regulation of UV-B Radiation on Glucosinolate Biosynthesis in Rapeseed Leaves. [PDF]

Plants (Basel)
Mao P, Chen S, Kong L, Yao X, Su W, Liu X, Zheng Y, Xu Z.   +7 more
europepmc   +1 more source

Sticking around: σ factor dynamics and implications for transcription elongation

Proceedings of the National Academy of Sciences
Rachel A. Mooney, Robert Landick
openaire   +2 more sources

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

14-3-3 λ suppresses ethylene-mediated root growth inhibition through EIN3/EIL1 in Aratbidopsis. [PDF]

Plant Physiol
Xiang ZX, Lv YL, Li YR, Zhou YF, Lu YK, Xu M, Ding F.   +6 more
europepmc   +1 more source

Tensile Stimulation in Biorelevant Culture Conditions Enhances MSC and TPSC Tenogenesis on Aligned Electrospun Scaffolds

Advanced NanoBiomed Research, EarlyView.
Biomimetic electrospun scaffold incorporating GDF‐7‐loaded mesoporous silica nanoparticles, combined with mechanical stimulation and physiological oxygen tension, guides tenogenic differentiation of mesenchymal stromal cell and tendon progenitor stem cell. This integrated approach enhances cell proliferation, matrix deposition, and tendon‐specific gene
Vera Citro, Aldo R. Boccaccini, Nicholas R. Forsyth, Tina P. Dale   +3 more
wiley   +1 more source

Associations between mechanical stress and epigenetic modifications in outer retinal layer remodeling in high myopia. [PDF]

Front Med (Lausanne)
Xu J, Wang L, Shen Z.
europepmc   +1 more source